Ozturk, M.Chiu, C. Y.Akdeniz, N.Jenq, S. F.Chang, S. C.Hsa, C. Y.Jap, T. S.2025-05-102025-05-1020061720-838610.1007/BF033441422-s2.0-33746807684https://doi.org/10.1007/BF03344142https://hdl.handle.net/20.500.14720/12285Multiple endocrine neoplasia type 1 (MEN1) is characterized by parathyroid, enteropancreatic endocrine and pituitary adenomas as well as germline mutation of the MEN1 gene. We describe 2 families with MEN1 with novel mutations in the MEN1 gene. One family was of Turkish origin, and the index patient had primary hyperparathyroidism (PHPT) plus a prolactinoma; three relatives had PHPT only. The index patient in the second family was a 46-yr-old woman of Chinese origin living in Taiwan. This patient presented with a complaint of epigastric pain and watery diarrhea over the past 3 months, and had undergone subtotal parathyroidectomy and enucleation of pancreatic islet cell tumor about 10 yr before. There was also a prolactinoma. Sequence analysis of the MEN1 gene from leukocyte genomic DNA revealed heterozygous mutations in both probands. The Turkish patient and her affected relatives all had a heterozygous A to G transition at codon 557 (AAG -> GAG) of exon 10 of MEN1 that results in a replacement of lysine by glutamic acid. The Chinese index patient and one of her siblings had a heterozygous mutation at codon 418 of exon 9 (GAC -> TAT) that results in a substitution of aspartic acid by tyrosine. In conclusion, we have identified 2 novel missense mutations in the MEN1 gene.eninfo:eu-repo/semantics/closedAccessMen1Men1 GeneMeninNovel MutationTurkeyTaiwanArticle296Q1Q152352716840830WOS:000239290000007